Hereditary ataxia
Gene: TUBB4AComment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxiaCreated: 9 Jan 2019, 11:38 a.m.
Comment when marking as ready: good evidenceCreated: 11 Jul 2016, 8:01 p.m.
Good evidence in lit. Positive in our cohort. Mode of inheritance/pathogenicity: dominant-negative?Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Publications for gene: TUBB4A were set to PMID: 25497598
Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TUBB4A was created by jonathan.williams
TUBB4A was added to Hereditary ataxiapanel. Sources: Expert Review